{
  "id": 23289,
  "label": "T-B+ severe combined immunodeficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0044200",
  "properties": {
    "xrefs": [
      "GARD:0021405",
      "MEDGEN:1842847",
      "Orphanet:317416",
      "UMLS:C5679894"
    ],
    "synonyms": [
      "T-B+ SCID",
      "T-cell negative B-cell positive SCID"
    ],
    "categories": [
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "T-B+ severe combined immunodeficiency (SCID) is a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes with presence of B lymphocytes, resulting in early-onset severe respiratory viral, bacterial or fungal infections, diarrhea and failure to thrive."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "parents": [
    {
      "id": 16628,
      "label": "severe combined immunodeficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16075
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:627",
          "GARD:0007628",
          "HP:0004430",
          "MEDGEN:88328",
          "MESH:D016511",
          "MedDRA:10069566",
          "NCIT:C3472",
          "NORD:1706",
          "Orphanet:183660",
          "SCTID:31323000",
          "UMLS:C0085110",
          "icd11.foundation:963193284"
        ],
        "synonyms": [
          "SCID",
          "severe combined immunodeficiency",
          "severe combined immunodeficiency (disease)",
          "severe combined immunodeficiency disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Severe combined immunodeficiency (SCID) comprises a group of rare monogenic primary immunodeficiency disorders characterized by a lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. They are classified according to immunological phenotype into SCID with absence of T cells but presence of B cells (T-B+ SCID) or SCID with absence of both (T-B- SCID). Both of these groups include several forms, with or without natural killer (NK) cells."
      },
      "child_count": 11,
      "reference_id": "MONDO:0015974"
    }
  ],
  "children": [
    {
      "id": 11485,
      "label": "T-B+ severe combined immunodeficiency due to gamma chain deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22249,
        23289
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060013",
          "EFO:0005555",
          "GARD:0005618",
          "MEDGEN:220906",
          "NANDO:1200321",
          "NANDO:2200694",
          "NCIT:C4682",
          "OMIM:300400",
          "Orphanet:276",
          "SCTID:203592006",
          "UMLS:C1279481"
        ],
        "synonyms": [
          "SCIDX1",
          "T-B+ SCID due to gamma chain deficiency",
          "T-B+ severe combined immunodeficiency due to gamma chain deficiency",
          "T-B+ severe combined immunodeficiency, X-linked",
          "X-linked severe combined immunodeficiency",
          "XSCID",
          "severe combined immunodeficiency, X-linked, X-linked recessive",
          "SCID, X-linked",
          "SCIDX",
          "X-SCID",
          "X-linked SCID",
          "immunodeficiency 4",
          "severe combined immunodeficiency T- B+ due to gamma chain deficiency",
          "severe combined immunodeficiency T- B+, X-linked",
          "severe combined immunodeficiency, X-linked",
          "severe combined immunodeficiency, X-linked, T cell-negative, B cell-positive, NK cell-negative"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010315"
    },
    {
      "id": 11870,
      "label": "combined immunodeficiency, X-linked",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23289
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:1001451",
          "GARD:0024751",
          "OMIM:312863"
        ],
        "synonyms": [
          "combined immunodeficiency, X-linked",
          "combined immunodeficiency, X-linked, moderate, X-linked recessive",
          "CIDX",
          "Xcid",
          "immunodeficiency 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010730"
    },
    {
      "id": 12069,
      "label": "T-B+ severe combined immunodeficiency due to JAK3 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22249,
        23289
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016632",
          "MEDGEN:331474",
          "MESH:C563440",
          "OMIM:600802",
          "Orphanet:35078",
          "SCTID:718107000",
          "UMLS:C1833275"
        ],
        "synonyms": [
          "SCID, autosomal recessive, T-negative/B-positive type",
          "T-B+ SCID due to JAK3 deficiency",
          "T-B+ severe combined immunodeficiency due to JAK3 deficiency",
          "T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency",
          "SCID, T cell-negative, B cell-positive, NK cell-negative",
          "severe combined immunodeficiency T-cell negative B-cell positive due to janus kinase-3 deficiency",
          "severe combined immunodeficiency, autosomal recessive, T cell-NEGATIVE, B cell-POSITIVE, NK cell-NEGATIVE"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010938"
    },
    {
      "id": 13226,
      "label": "immunodeficiency 104",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22249,
        23289
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090014",
          "GARD:0018293",
          "MEDGEN:1801019",
          "MESH:C563822",
          "OMIM:608971",
          "UMLS:C5676890"
        ],
        "synonyms": [
          "IMD104",
          "autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID",
          "severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive",
          "severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type",
          "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive",
          "SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012163"
    },
    {
      "id": 13797,
      "label": "lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17417,
        22225,
        23289
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016947",
          "MEDGEN:461506",
          "OMIM:611926",
          "Orphanet:137631",
          "SCTID:721977007",
          "UMLS:C3150156"
        ],
        "synonyms": [
          "immunodeficiency, ovarian dysgenesis, and pulmonary fibrosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterized by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012757"
    },
    {
      "id": 15175,
      "label": "severe combined immunodeficiency due to CORO1A deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23289
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060019",
          "GARD:0017144",
          "MEDGEN:815713",
          "OMIM:615401",
          "Orphanet:228003",
          "UMLS:C3809383",
          "icd11.foundation:575769539"
        ],
        "synonyms": [
          "SCID due to CORO1A deficiency",
          "SCID due to coronin-1A deficiency",
          "coronin-1A deficiency",
          "immunodeficiency type 8",
          "severe combined immunodeficiency due to CORO1A deficiency",
          "severe combined immunodeficiency due to coronin-1A deficiency",
          "IMD8",
          "immunodeficiency 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014168"
    },
    {
      "id": 16465,
      "label": "T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20383,
        23289
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060015",
          "GARD:0017051",
          "MEDGEN:1842915",
          "Orphanet:169154",
          "UMLS:C5679577"
        ],
        "synonyms": [
          "IL-7R",
          "IL-7Ralpha deficiency",
          "T-B+ SCID due to IL-7Ralpha deficiency",
          "interleukin-7 receptor alpha deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A severe combined immunodeficiency that results from defective IL7R expression causes T-B+NK+ SCID. Loss of IL-7R function leads to the loss of an antiapoptotic signal, resulting in a loss of T-cell selection in thymus."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015701"
    },
    {
      "id": 16466,
      "label": "T-B+ severe combined immunodeficiency due to CD45 deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23289
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060014",
          "GARD:0017052",
          "MEDGEN:1842877",
          "Orphanet:169157",
          "UMLS:C5679579"
        ],
        "synonyms": [
          "CD45 deficiency",
          "T-B+ SCID due to CD45 deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015702"
    },
    {
      "id": 16467,
      "label": "T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23289
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017053",
          "MEDGEN:1842819",
          "Orphanet:169160",
          "UMLS:C5679578"
        ],
        "synonyms": [
          "T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0015703"
    },
    {
      "id": 23407,
      "label": "severe combined immunodeficiency due to LAT deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23289
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111983",
          "GARD:0017938",
          "MEDGEN:1384124",
          "OMIM:617514",
          "Orphanet:504523",
          "UMLS:C4479588"
        ],
        "synonyms": [
          "SCID due to LAT deficiency",
          "IMD52",
          "immunodeficiency 52"
        ],
        "categories": [
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0044721"
    }
  ],
  "roots": [
    {
      "id": 16628,
      "label": "severe combined immunodeficiency"
    }
  ]
}